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Cardiac issues are common in Wilson's disease, affecting 34% of patients with arrhythmias and autonomic dysfunction. This multisystem disorder requires adding cardiac evaluation to its known hepatic and neurological symptoms.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Wilson's disease is a rare genetic multisystem disorder primarily affecting the liver and brain.
- Cardiac involvement in Wilson's disease is infrequently recognized, despite its potential severity.
Purpose of the Study:
- To prospectively investigate the prevalence and spectrum of cardiac manifestations in patients with Wilson's disease.
- To compare electrocardiographic findings between Wilson's disease patients and healthy controls.
Main Methods:
- Prospective study of 53 consecutive Wilson's disease patients and 40 control subjects (medical students and carriers).
- Electrocardiography (ECG) performed on all participants.
- Assessment of autonomic function using orthostatic hypotension tests and Valsalva maneuver.
Main Results:
- Electrocardiographic abnormalities were observed in 34% of Wilson's disease patients, including hypertrophy and various arrhythmias.
- Autonomic dysfunction, such as orthostatic hypotension, was present in 19% of patients.
- Two cardiac deaths occurred, one due to ventricular fibrillation and the other to dilated cardiomyopathy.
Conclusions:
- Cardiac involvement is a significant, often unrecognized, feature of Wilson's disease.
- Manifestations include arrhythmias, cardiomyopathy, cardiac death, and autonomic dysfunction.
- Cardiac evaluation should be integrated into the comprehensive clinical assessment of Wilson's disease.
Abstract:
Wilson's disease is a multisystem disorder. Heart involvement in Wilson's disease, however, has rarely been recognized. A prospective study was undertaken of 53 consecutive patients (28 men and 25 women, mean age of 21.4 years) with Wilson's disease. Electrocardiographic abnormalities occurred in 18 of 53 patients (34 percent), including left ventricular hypertrophy, biventricular hypertrophy, early repolarization, ST depression and T inversion, premature atrial or ventricular contractions, atrial fibrillation, sino-atrial block, Mobitz type 1 atrioventricular block, and tremor artifact. In contrast, 26 medical students and 14 carriers of Wilson's disease as control subjects (mean age of 22.6 years) all showed normal ECG. Eight out of 43 patients (19 percent) demonstrated asymptomatic orthostatic hypotension. An abnormal response to the Valsalva maneuver occurred in six of 18 patients (33 percent). There were two cardiac deaths; one died of repeated ventricular fibrillation (the copper content in the myocardium was 2.28 micrograms/g, and in the bundle of His 1.21 micrograms/g wet weight in the autopsy specimen); and the other, of dilated cardiomyopathy. It is concluded that four modes of cardiac manifestations in Wilson's disease include arrhythmias, cardiomyopathy, cardiac death, and autonomic dysfunction. Such possible cardiac involvement should be added to the clinical picture of Wilson's disease involving the hepatic and central nervous system.